Canonical Allele Identifier: CA2470712115
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15282231C= , CM000686.2:g.15282231C= GRCh38
NC_000024.9:g.17394111C= , CM000686.1:g.17394111C= GRCh37
NC_000024.8:g.15903505C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756089.1:n.310-35053G=